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2023 Fiscal Year Final Research Report

Uncovering ALS mechanisms and drug targets linked to autophagy disturbances

Research Project

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Project/Area Number 22K15724
Research Category

Grant-in-Aid for Early-Career Scientists

Allocation TypeMulti-year Fund
Review Section Basic Section 52020:Neurology-related
Research InstitutionThe University of Tokyo

Principal Investigator

Naruse Hiroya  東京大学, 医学部附属病院, 特任助教 (20898241)

Project Period (FY) 2022-04-01 – 2024-03-31
Keywords筋萎縮性側索硬化症
Outline of Final Research Achievements

Amyotrophic lateral sclerosis (ALS) is a representative neurodegenerative disease characterized by the selective cell death of motor neurons, which results in the loss of motor functions. Many aspects of its pathogenesis remain unclear, and no curative treatment has yet been discovered. In this study, we aimed to identify novel genes related to ALS and to elucidate the mechanisms underlying its onset. We conducted comprehensive genomic analyses, including whole-exome sequencing and whole-genome sequencing, on sporadic and familial ALS cases collected by our department. As a result, we identified a novel gene associated with ALS.

Free Research Field

神経内科学

Academic Significance and Societal Importance of the Research Achievements

本邦の家族性ALS症例の約4割、孤発性ALS症例の約96%において、ALSの原因遺伝子の病原性バリアントが見出されておらず、遺伝的病因の解明は引き続き重要な課題である。本研究で今回ALSの新規原因遺伝子の病原性バリアントを家族性ALSおよび孤発性ALS症例で見出したことは、ALSのさらなる病態解明のためにも重要な知見である。さらに脂質代謝に重要な遺伝子の病原性バリアントを同定したことから、特定の脂質代謝異常を是正することによりALSの治療が可能になることも期待される。

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Published: 2025-01-30  

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